Scientists led by Guntram Borck at the University of Ulm in Germany and David Adams at the Wellcome Trust Sanger Institute in Cambridge have tracked down the faulty gene responsible for a rare disorder that causes problems with brain development. Using a combination of genome sequencing from four patients with the disease and mouse models, the scientists discovered that mistakes in a gene called UBE3B are responsible for Blepharophimosis-Ptosis-Intellectual Disability Syndrome - the first time this gene has been linked to a human disease.
The UBE3B gene is involved in a process called ubiquitinylation, where enzymes inside cells stick little molecular tags on certain proteins, marking them out for destruction. Mice with faults in the gene show the same symptoms as human patients, with smaller bodies and brains, as well as problems with cholesterol metabolism. The research highlights the importance of using animal models in combination with human genetic studies for helping us to understand rare and complex human diseases. The scientists now hope to use their mouse model as a basis for developing therapies for the disease, to help sufferers in the future.